Diagnosis Of Hypertrophic Obstructive Cardiomyopathy Research Articles

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to the progressive accumulation of glycosphingolipids and the structural and functional impairment of affected organs. Due to the inheritance pattern, male patients are hemizygous with more severe manifestations of the disease as compared to females who, in most cases, are heterozygous with delayed and variable clinical presentation caused by uneven X-chromosome inactivation. Fabry disease cases are often identified by targeted screening programs in high-risk groups, such as in patients with end-stage renal disease, premature stroke, or unexplained cardiomyopathy. Here, we describe a unique case of a homozygous female patient identified by a nationwide screening program in hypertrophic cardiomyopathy patients. Before the systematic screening, the patient had a diagnosis of hypertrophic obstructive cardiomyopathy and was treated accordingly, including with alcohol septal ablation to reduce the obstructive gradient. The confirmation of Fabry disease led to the discovery of the same variant in several members of her family. The identified variant was c.644A>G, p.Asn215Ser (p.N215S), which is known to cause predominant cardiac involvement with late onset of the disease. This variant is amenable to oral therapy with the small-molecule chaperone migalastat, which was started and then interrupted due to the recurrence of the patient’s migraine and then re-initiated again after two years. During this period, the patient received enzyme replacement therapy with agalsidase beta but developed progressively worsening venous access. Our case illustrates the importance of the systematic screening of patients with clinical evidence of hypertrophic cardiomyopathy in whom the routine diagnostic process fails to discover Fabry disease, in particular variants with late-onset cardiac manifestations. Many of the late-onset variants are amenable to orally active therapy with migalastat, which significantly improves the comfort of the treatment. Its long-term results are being analyzed by a large international “Follow-me” registry, which was designed to verify the validity of pivotal trials with migalastat in Fabry disease.

Alcohol ablation of the heart – Case report

Abstract
 Alcohol septal ablation (ASA) is a minimally invasive, non-surgical treatment for hypertrophic cardiomyopathy. This condition causes the heart tissue to thicken, restricting blood flow. Reduced blood flow causes symptoms such as shortness of breath and fatigue. Alcohol septal ablation restores normal blood flow by damaging and shrinking the thickened tissue. The procedure does not damage normal tissue. Providers perform this procedure on people who have HCM and, despite medication, have symptoms of shortness of breath and/or fatigue with exertion.1
 Alcohol ablation has been successfully used in the ablation of ventricular tachycardiaventricular fibrillation, and atrial fibrillation. 2
 Material and Methods
 The procedure is performed under the control of the Toshiba Infinix discoscope, in the coronary angiography program. Diascopy parameters are 86 kVp, 800 mA, fluoroscopy: 5 fr/sec, radiography 10 fr/sec, pulse width 12 bit, matrix size 1024x1024. The procedure was performed in the RAO 30° CRANIAL 30° projection, and with a magnification of 20 cm. Visipaque 320 contrast agent was used, which was injected via the MEDRAD Avanta automatic injector. Contrast injection parameters were flow rate 2 ml/s and volume 4 ml. A total of 120 ml of contrast agent was given. To confirm the results of AA, ultrasound contrast agent SONOVIEW was used. Monitoring of contrast flow through the myocardium was done with a SIEMENS ultrasound device.
 Case study
 The patient, 65 years old, is hospitalized at the Department of Interventional Cardiology for an invasive cardiac procedure under the diagnosis of hypertrophic obstructive cardiomyopathy. Echocardiography after the procedure: The left atrium is dilated and elongated. Mitral valve morphologically sclerotically changed, functionally mild to moderate MR 2+ (VC 4 min) Left ventricle of regular dimensions, concentrically hypertrophic walls. Type 3 SAM is being verified. Preserved left ventricular systolic function (EF 60%).
 Conclusion
 We present the case of an elderly patient with symptomatic obstructive hypertrophic cardiomyopathy. Despite the modification of drug therapy, significant obstructive pressure in the outflow tract of the left ventricle still persisted. After adequate preparation, septal alcohol ablation is performed with echo control of the procedure. Postprocedurally, the dynamics of cardioselective enzymes are monitored with ultrasound verified hypokinesis of the S2 irrigation area. Due to intermittent complete AV block, a permanent electrostimulator is implanted. At the

Rare Case of Pediatric Hypertrophic Obstructive Cardiomyopathy (HOCM) in A 6-year-old Boy: How to Recognize, Assess, and Manage the Risk?

Highlights: It discusses pediatric HCM which is usually caused by autosomal dominant traits caused by mutation in cardiac sarcomere protein genes. It explains how to recognize the cardiac risk Abstract: Hypertrophic Obstructive Cardiomyopathy (HOCM) is a disease characterized by increased left ventricular (LV) wall thickness and accompanied by obstructive physiology measured by increased LV outflow tract gradient. It is mainly inherited in autosomal dominant traits caused by a mutation in cardiac sarcomere protein genes. In pediatrics, HOCM is rare and comprises a different diagnosis and management approach compared to adults. The risk of sudden cardiac death (SCD) is also higher in the pediatric population. Case Summary. This report is about a case of HOCM found incidentally in a 6-year-old boy and a discussion based on the latest literature review. The patient first came for evaluation for cardiac murmur and abnormality in ECG and chest x-ray. Diagnosis of HOCM was made through echocardiography assessment. Discussion. ICD implantation for primary prevention of SCD was considered based on individualized 5-year SCD risk assessment which is around 7%. Optimal pharmacological therapy with beta-blocker, careful planning of ICD implantation with balanced benefit and risk, and septal reduction surgery when indicated should extend the life expectancy and quality of life of pediatric HOCM. It is both essential and interesting to recognize pediatric HOCM diagnostic findings and to pursue further research about therapies of this rare disease.

An Unusual Case of Shock in an Octogenarian

An octogenarian presented to our hospital in shock after being “found down” at home. She was dehydrated, hypernatremic, and suffering from a urinary tract infection. Findings of a murmur and those on electrocardiography led to the performance of echocardiography, with all findings consistent with a diagnosis of hypertrophic obstructive cardiomyopathy. The patient was volume resuscitated and administered antibiotics; after stabilization, she was started on a low-dose beta-blocker. Hypertrophic cardiomyopathy is a common genetic disorder that is usually diagnosed in the second to fifth decades of life, rarely being diagnosed at an advanced age. It is also an uncommon cause or contributor to shock. We briefly review the diagnosis and management of hypertrophic cardiomyopathy in older adults, particularly in the setting of shock.

Prevalence and characteristics of intramural coronary artery in hypertrophic obstructive cardiomyopathy: a coronary computed tomography and invasive angiography study.

The prevalence and morphologic characteristics of intramural coronary artery (ICA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) have yet to be fully illuminated. Our study aimed to investigate the prevalence and morphologic characteristics of ICA in patients with HOCM using coronary computed tomography (CT) angiography and invasive coronary angiography. Patients with a diagnosis of HOCM who were admitted for selective myectomy in Fuwai Hospital were prospectively enrolled between September 2015 and June 2019. Both preoperative coronary CT and invasive angiography were scheduled for all participants. Coronary CT angiography detected ICA in 106 (23.3%) out of 455 patients. Dynamic compression of coronary arteries was observed in 87 patients (19.1%) by invasive coronary angiography. We found ICA covered with complete myocardial encasement in 98 patients (92.5%), with deep myocardial bridging (MB) observed most frequently (P=0.005). All patients with dynamic compression of coronary arteries had ICA. Dynamic luminal reduction ≥50% was present in 77 (16.9%) of the study participants. Pearson's correlation analysis revealed that the length and degree of dynamic compression were significantly related with MB length and depth (Pearson's correlation r=0.241, 0.581, 0.316, and 0.209; P=0.014, <0.001, 0.002, and 0.032, respectively). Patients with HOCM commonly present with ICA and it can be visualized well by coronary CT angiography. Deep or extensive MB is more likely to produce coronary artery dynamic compression. Preoperative identification of this congenital coronary artery variant may be helpful for surgical planning.

Cardiac magnetic resonance image diagnosis of hypertrophic obstructive cardiomyopathy based on a double-branch neural network

Objective: Cardiac magnetic resonance (CMR) imaging is a well-established technique for diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) and evaluation of cardiac function, but the process is complicated and time consuming. Therefore, this paper proposes a cardiomyopathy recognition algorithm using a multi-task learning mechanism and a double-branch deep learning neural network.Method: We implemented a double-branch neural network CMR-based HOCM recognition algorithm. Compared with the traditional classification algorithms such as the ResNet, DenseNet network, contrast the accuracy of network classification of cardiomyopathy is higher by 10.11%.Result: The loss curve of the algorithm basically converges in 100 rounds, and the convergence speed of the algorithm is twice that of the traditional algorithm. The accuracy of this algorithm to classify cardiomyopathy is 96.79%, and the sensitivity is 95.24%, which is 10.11% higher than the conventional algorithm.Conclusion: The CMR imaging automatic recognition algorithm for HOCM capture static morphological and motion characteristics of the heart, and comprehensively enhances recognition accuracy when the sample size is limited.

Experience in Obstructive Hyperthrophic Myocardiopathy Surgery at a National Reference Center

To identify the clinical characteristics, analyze the results and show the efficacy of surgical treatment of hypertrophic obstructive cardiomyopathy (HOC), in a national reference institute. A descriptive, retrospective, case series of patients with the diagnosis of HOC operated at the National Cardiovascular Institute, was performed between December 2016 and January 2019. We analyzed the postoperative evolution of symptomatology, functional class (FC), left ventricular outflow tract gradient (LVOTG) and mitral regurgitation (MR). Thirteen cases with HOC undergoing extended septal myectomy were evaluated. 31% were women and the average age was 39.6 years. Before surgical treatment, 85% were in functional class (FC) III-IV, 85% of patients had severe MR, the mean septum thickness was 27 mm (range from 19 to 39 mm), and mean LVOTG was 111 mmHg (range from 60 to 150 mmHg). After surgical treatment we found improvement of the functional class (69% in FC I) and the degree of MR (92% with zero or minimal), and reduction of mean LVOTG to 16 mmHg (range from 6 to 35 mmHg). Simultaneous surgery of the mitral valve was performed in 7 patients (54%). Our experience in HOC surgery is good. The treatment of both myocardial and valve components allows reducing LVOTG and correcting MR.

Effect of Septal Myectomy on Obstructive Sleep Apnoea Syndrome in Patients With Hypertrophic Obstructive Cardiomyopathy

The prevalence of obstructive sleep apnoea (OSA) is high in patients with hypertrophic cardiomyopathy. The effect of septal myectomy on OSA is not clear. This study aimed to examine the association between hypertrophic obstructive cardiomyopathy and OSA before and after septal myectomy. We included 85 consecutive patents with a confirmed diagnosis of hypertrophic obstructive cardiomyopathy who underwent septal myectomy. Polysomnography was performed in all patients before and 3 months after the surgery. Of the 85 patients, 49 (58%) were diagnosed with OSA. Patients with OSA were significantly older than those without OSA. The incidence of atrial fibrillation significantly increased during the perioperative period in patients with OSA (p = 0.03). The severity of OSA significantly increased 3 months after surgery, as determined by the apnoea-hypopnoea index (AHI; p < 0.001), obstructive apnoea index (p = 0.024), and hypopnoea index (p = 0.003), whereas central apnoea index was decreased (p = 0.008). In the multivariate linear regression analysis, mean oxygen desaturation and time% with SpO2 <90% during sleep before surgery were significantly associated with increased AHI, independently of body mass index and sex (p = 0.026 and p = 0.007, respectively; adjusted R2 = 0.365). The severity of OSA significantly increased 3 months after septal myectomy as determined by AHI, obstructive apnoea index, and hypopnoea index. Mean oxygen saturation and time% with SpO2 <90% during sleep before surgery were independently associated with the increase of AHI. However, the specific mechanism of such deterioration of OSA after septal myectomy needs to be determined in detail.

Abstract 17060: Effect of Septal Myectomy on Obstructive Sleep Apnea Syndrome in Patients With Hypertrophic Obstructive Cardiomyopathy

Introduction: Hypertrophic cardiomyopathy (HCM) has a higher prevalence of OSA. The impact of obstructive sleep apnea on perioperative complications in hypertrophic obstructive cardiomyopathy (HOCM) patients undergoing septal myectomy and the impact of septal myectomy on OSA are not yet clear. Therefore, we sought to examine the association between HOCM and OSA before and after septal myectomy. Methods: We studied 69 consecutive patents with a confirmed diagnosis of HOCM who underwent septal myectomy. All patients performed polysomnography before and three months after operation. Results: Of all the patients, 41 (59.4%) were diagnosed with OSA. Compared to patients without OSA, patients with OSA were significantly older. The incidence of atrial fibrillation increased significantly during perioperative period in patients with OSA (31.7% vs 10.7%, p=0.048). Three months after operation, the severity of OSA increased significantly, as reflected by AHI, OAI and HI (11.7[7.2-22.1] vs 25.6(17.7-33.8), p&lt;0.001; 11.6[6.8-17.6] vs 15.1[9.5-20.8], p=0.024;) 4.4[2.5-7.1] vs 8.3[4.1-12.0], p=0.003) while the CAI decreased (0.4[0.0-2.1] vs 0.2[0.0-0.8], p=0.008). In a multivariate linear regression analysis, mean oxygen desaturation and time% with Spo2 &lt;90% during sleep were significantly associated with an increased AHI independently of sex, BMI and gender (p=0.026 and p=0.007, adjusted R 2 =0.365). Conclusions: The severity of OSA increased significantly three months after septal myectomy as reflected by AHI, OAI and HI. The mean oxygen saturation and time% with Spo2 &lt;90% during sleep are independently associated with the increase of AHI.

Disparities in the Diagnosis of Hypertrophic Obstructive Cardiomyopathy: A Narrative Review of Current Literature.

Hypertrophic obstructive cardiomyopathy (HOCM) is a disorder of abnormal thickening of the myocardium that affects 0.2% of the population. HOCM is a frequently implicated cause of sudden cardiac death (SCD) in young athletes. In this manner, this condition has the capacity for tremendous emotional, social, financial, and medical burdens for families and communities across the country. Multiple factors including genetics and hormonal elements are believed to play a role in the development of this cardiomyopathy. HOCM is an autosomal dominant trait with variable expressivity. It is associated with several genetic changes in the myosin heavy chain genes. Current treatment includes optimization of cardiac risk factors and medical management with beta-adrenergic blockade with definitive treatment of surgical intervention to reduce cardiac workload. The demographic most likely to be diagnosed with HOCM based upon clinical registry data is Caucasian boys and men. However, a growing body of data supports increased prevalence in African American populations and percentages equal to, if not higher than, Caucasian males in Hispanic populations. Similarly, males of African American ethnicity that participate in basketball are the most likely demographic to be affected by HOCM based on the data available from the National Collegiate Athletic Association (NCAA). Further, though rates of diagnosis may be up to 1.5 times higher in males than in females, an increasing number of studies demonstrate an increased prevalence of HOCM in females, often presenting with worse symptoms and an increased incidence of disease progression. Similarly, data suggest that age of diagnosis is associated with various prognostic factors including annual mortality. In addition, consideration of the social determinants of health undoubtedly impacts the rate of diagnosis, access to care, and HOCM-related complications in underserved populations. Effective screening including auscultation and electrocardiography (EKG) with confirmatory echocardiography in these communities supports equitable surveillance and management of HOCM.

The Association of Combined Peak Oxygen Consumption and Ventilatory Efficiency with Survival in Hypertrophic Obstructive Cardiomyopathy

INTRODUCTION: Hypertrophic obstructive cardiomyopathy (HOCM) patients have impaired left ventricular outflow compromising peak oxygen uptake (VO2). HOCM patients also exhibit reduced ventilatory efficiency (i.e. greater ventilation to carbon dioxide production (VE/VCO2) slope). Reduced peak VO2 and elevated VE/VCO2 slope have independently been associated with mortality in these patients; however, it unknown if combining these prognostic indicators will their prognostic value. PURPOSE: To determine if peak VO2 combined with VE/VCO2 slope was associated with survival in HOCM patients. METHODS: We included all consecutive patients with the diagnosis of HOCM who underwent CPET between the years 1995 to 2016. We created Cox regression models to test the association between VO2 and VE/VCO2 slope with survival and the prognostic value of exercise capacity (EC) defined by the median [peak (VO2) in mL/Kg/min] to define high and low EC. The VE/VCO2 slope cutpoint was defined as ≥ 34. Models were adjusted for factors known to affect both peak VO2 and survival. RESULTS: We included 926 patients (age: 53.4 ±14.1 years, 41% women) over a median follow-up of 5.1 years with 107 patient deaths. Peak VO2 and VE/VCO2 slope predicted survival in HOCM patients (AUC: 0.63, p<0.001 and AUC: 0.66, p<0.001, respectively). Combining peak VO2 and VE/VCO2 improved the prognostic value for survival (AUC: 0.69, p<0.001) beyond that of peak VO2 and VE/VCO2 separately. HOCM patients with a low peak VO2 and high VE/VCO2 slope had a greater risk of death than those with a higher VO2 and low VE/VCO2 slope (HR: 5.51, 95%CI: 2.51-13.93, p<0.001). This relationship remained consistently strong after adjusting for age, sex, body mass index, New York Heart Association Functional Class, hypertension, diabetes, coronary artery disease, and smoking (adjusted HR: 3.73, 95%CI: 1.52-10.18, p=0.007). CONCLUSION: These findings demonstrate that combining peak VO2 and ventilatory efficiency accurately predicts survival in HOCM patients even after adjustment for traditional risk factors. These results highlight the importance of CPET in HOCM patients.

A clinically and echocardiographically demonstrable dynamic left ventricular outflow tract obstruction

Dynamic left ventricular outflow tract (LVOT) obstruction is a distinctive finding on echocardiography and often supports a diagnosis of hypertrophic obstructive cardiomyopathy (HOCM). It is also a clinical entity in its own right and is reproducible with stress. We describe a case of dynamic outflow obstruction in an elderly man with classical exertional symptoms. Echocardiography was used to demonstrate a variable gradient, with imaging performed at rest and following physical exertion. We will review the pathophysiological changes seen in this condition, both in terms of cardiac structure and the physics of fluid dynamics. Medical treatment is centered around a meaningful understanding of these changes, but there are also surgical and ablative options available. Device therapy with an implantable cardioverter-defibrillator (ICD) is the mainstay of HOCM treatment, particularly when ventricular arrhythmias are evident. A risk stratification for sudden cardiac death from hypertrophic cardiomyopathy is imperative in case by case management.

Role of Perioperative Echocardiography in the Diagnosis of Hypertrophic Cardiomyopathy: Decoding Special Problem in the Background of Commoners

ABSTRACT We present a case posted for CABG with double valve replacement (DVR) for triple-vessel coronary artery disease (CAD), rheumatic severe mitral regurgitation, and severe aortic stenosis. However, preprocedure echocardiography in the operation theater confirmed the diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) instead of valvular aortic stenosis, thereby altering the procedure performed to CABG, mitral valve replacement (MVR), and myectomy. How to cite this article Mandal B, Rana SS, Munirathinam GK, Ghotra SS. Role of Perioperative Echocardiography in the Diagnosis of Hypertrophic Cardiomyopathy: Decoding Special Problem in the Background of Commoners. J Perioper Echocardiogr 2017;5(1):27-30.

Hypertrophic Obstructive Cardiomyopathy Diagnosed During Regadenoson Stress Test

Regadenoson (REG) is a selective adenosine A2a receptor agonist which is used as an agent to induce vasodilation for the nuclear myocardial perfusion stress test in patients with suspected coronary artery disease (1). Here we report a case where REG infusion caused immediate accentuation of a murmur with an increase in the left ventricular outflow tract (LVOT) gradient, which led to the diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) in this patient.

Basal antero-septal anomalous papillary muscle in hypertrophic obstructive cardiomyopathy

Background We report the presence of an anomalous papillary muscle inserting into the basal antero-septum in patients with hypertrophic obstructive cardiomyopathy (HOCM) investigated by means of cardiac MRI. Methods 9 consecutive patients with HOCM and 13 age- and gender-matched controls without this condition were interrogated using a Siemens Espree MRI machine. A diagnosis of HOCM was established on the basis of asymmetric antero-septal left ventricle hypertrophy and systolic anterior motion of the mitral apparatus. Results 100% of HOCM patients and 62% (n=8, P=0.05) of controls demonstrated an anomalous papillary muscle connecting the left ventricle basal antero-septum with the apex, noticeable on a long axis view acquired on an SSFP sequence. This particular structure contracts during during

Mitral valve replacement and septal myectomy for hypertrophic obstructive cardiomyopathy

A 76-year-old woman with a diagnosis of hypertrophic obstructive cardiomyopathy was referred to our hospital's surgical department. Her echocardiogram revealed diffuse left ventricular hypertrophy, moderate mitral valve regurgitation with systolic anterior motion of the mitral valve, and left ventricular obstruction with a peak outflow gradient of 108mm Hg. We performed a transaortic rectangular septal myectomy with an incision at a width, depth, and length of 1cm, 1cm, and 3cm, respectively. However, the transesophageal echocardiogram revealed residual left ventricular obstruction and systolic anterior motion, and we subsequently replaced the mitral valve with a mechanical valve. The patient's postoperative course was uneventful, and the peak outflow gradient decreased to 15mm Hg. Although transaortic septal myectomy is the most common surgery currently used for hypertrophic obstructive cardiomyopathy, mitral valve replacement should remain an option in patients with diffuse left ventricular hypertrophy who fail to improve after myectomy alone.

Mitral Valve Repair is Underused in Patients with Hypertrophic Obstructive Cardiomyopathy

The optimal surgical approach for patients with hypertrophic obstructive cardiomyopathy (HOCM) with concomitant mitral valve (MV) regurgitation has remained controversial. The purpose of this study was to use the largest all-payer database in the United States to examine the strategy most commonly used for the correction of mitral valve pathology in the setting of HOCM. The Nationwide Inpatient Sample (NIS) database was searched from 2005 to 2008 to identify patients with a diagnosis of HOCM (ICD-9-CM code 425.1) who underwent MV repair (ICD-9-CM code 35.12) or replacement (ICD-9-CM codes 35.23 and 35.24). HOCM patients who underwent MV repair and those who underwent MV replacement were compared with respect to baseline characteristics, repair rates, hospital mortality, and length of stay (LOS). MV repair was performed in 17.2% of cases (219/1255). Repair rates did not show a significantly increasing trend over time (P = .1419). The median LOS was significantly longer for replacement than for repair (11 days versus 7 days, P = .0001). The mortality rate for patients who underwent repair was 0.00%, compared with 11.18% for those who underwent replacement (P < .05). The majority of patients with a HOCM diagnosis underwent MV replacement for the correction of MV pathology. Referral to centers with special expertise in treating patients with HOCM may positively affect the operative outcomes of this patient subset.

Still a Kid at Heart

Information about a real patient is presented in stages (boldface type) to an expert clinician (Dr Michael A. Fifer), who responds to the information, sharing his reasoning with the reader (regular type). A Discussion by the authors follows. A 76-year-old man with a history of hypertrophic obstructive cardiomyopathy (HOCM), hypertension, dyslipidemia, and obstructive sleep apnea presents with dyspnea on exertion. This symptom has progressed slowly over the past year, to the point that he now has dyspnea on climbing 1 flight of stairs. The patient denies orthopnea, paroxysmal nocturnal dyspnea, edema, chest discomfort, palpitations, lightheadedness, and syncope. His medications are metoprolol, verapamil, disopyramide, rosuvastatin, and omeprazole. He is a retired electrician, is married with 3 adult children, and lives in Florida and Massachusetts, each for half the year. He has a history of heavy tobacco use but quit smoking more than 30 years ago. His family history is notable only for diabetes mellitus and stroke in his father; there are no family members with heart failure, hypertrophic cardiomyopathy (HCM), or sudden cardiac death (SCD). Dr Michael A. Fifer: This patient's presenting complaint is progressive dyspnea on exertion, for which he has possibly contributory comorbidities, namely, obstructive sleep apnea and hypertension. The history of HCM is particularly relevant because dyspnea is a common initial manifestation of the disease.1 Dyspnea may occur in HCM as a result of a variety of mechanisms, including diastolic heart failure due to myocardial hypertrophy and fibrosis, left ventricular outflow tract (LVOT) obstruction, and associated mitral regurgitation (MR). Although the correlation between symptoms and the magnitude of the LVOT gradient is weak,2 dyspnea is usually relieved by septal reduction therapy. In this patient, any or all of these factors might contribute to progressive dyspnea on exertion. More information regarding how the diagnosis of HOCM was …

A case of mixed connective tissue disease complicated with hypertrophic obstructive cardiomyopathy

A 54-year-old female was diagnosed as mixed connective tissue disease (MCTD) complicated with secondary Sjögren's syndrome. Although she had no dyspnea on exertion, the chest X-ray showed cardiomegaly with interstitial pneumonia. The echocardiogram demonstrated asymmetric hypertrophy of the interventricular septum. Diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) was confirmed by left ventriculography and myocardial biopsy. She was treated with prednisolone, resulting in improvement of swollen hand, elevated muscle enzymes and interstitial pneumonia. A rare complication of HOCM with MCTD was described.

The LEOPARD syndrome: a rare condition associated with hypertrophic cardiomyopathy

A 66-year-old woman, known for years with LEOPARD syndrome (LEOPARD stands for multiple Lentigines, Electrocardiographic conduction defects; Ocular hypertelorism; Pulmonary stenosis; Abnormalities of the genitalia; Retardation of growth and sensorineural Deafness), presented with complaints of progressive dyspnoea over the course of the last months. The physical examination revealed multiple lentigines, cafe-au-lait spots (Panel A), and pectus excavatum. The 12-lead ECG (Panel B) showed left-axis deviation, ST-segment abnormalities, and T-wave inversion. An echocardiographic analysis confirmed the diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) with a maximal septal wall thickness of 19 mm, a left ventricular outflow tract (LVOT) dynamic gradient of 73 …